Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report.

ABSTRACT. Background The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive genetic disorder, characterised by multiple congenital malformations, dysmorphic facial features and mental retardation. SLOS is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol Δ7reductase (7-DHC reductase), the catalyst involved in the final step of cholesterol biosynthesis, with the consequence of an increased serum levels of 7-DHC and generalised cholesterol deficiency. Case Report A 5-year-old female child was referred to the Department of Paediatric Dentistry of the University of Palermo for caries, gingivitis and malocclusion. The medical history revealed the diagnosis …